Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jan 2019

Ching Yung-Hao, Yeh Jih-I, Fan Wen-Lang, Chen Ko-Chen, Yeh Man-Chieh, Woon Peng Yeong, Lee Yuan-Chieh

Abstract excerpt

BACKGROUND/PURPOSE: To identify the underlying genetic cause of a Taiwanese family with autosomal dominant cerulean cataract. METHODS: A three-generation cerulean cataract family with 13 affected and 13 normal was identified. Whole exome sequencing, whole genome single nucleotide polymorphism genotyping and haplotype analysis, and fine mapping using polymorphic short tandem repeat markers were used to identify...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cataract
Share to Chromosomes, Human, Pair 18

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 22

Share to Exome Sequencing

Share to Family

Share to Taiwan

Share to Young Adult

Source

Identifiers

PMID: 29395391
DOI: 10.1016/j.jfma.2018.01.005

Genes

CRYBB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract.PMID 29395391Read ↗

Autosomal-dominant cerulean cataract in a chinese family associated with gene conversion mutation in beta-B2-crystallin.Semantic proximity Read ↗

A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.Semantic proximity Read ↗

Identification of 4 Novel Variants in 19 Families with Congenital CataractsSemantic proximity Read ↗

Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.Semantic proximity Read ↗

Identification of mutations associated with congenital cataracts in nineteen Chinese familiesSemantic proximity Read ↗

A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family.Semantic proximity Read ↗

Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.Semantic proximity Read ↗

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.Semantic proximity Read ↗

A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.Semantic proximity Read ↗

A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family.Semantic proximity Read ↗

Identification and characterization of six β-crystallin gene mutations associated with congenital cataract in Chinese families.Semantic proximity Read ↗

A novel mutation in CRYBB2 responsible for inherited coronary cataract.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.